Gamez J - Search Results

1

A mitochondrial DNA duplication as a marker of skeletal muscle specific mutations in the mitochondrial genome.

Mancuso M, Vives-Bauza C, Filosto M, Marti R, Solano A, Montoya J, Gamez J, DiMauro S, Andreu AL. Mancuso M, et al. Among authors: gamez j. J Med Genet. 2004 Jun;41(6):e73. doi: 10.1136/jmg.2003.012278. J Med Genet. 2004. PMID: 15173239 Free PMC article. No abstract available.

2

Altered expression of master regulatory genes of adipogenesis in lipomas from patients bearing tRNA(Lys) point mutations in mitochondrial DNA.

Guallar JP, Vilà MR, López-Gallardo E, Solano A, Domingo JC, Gámez J, Pineda M, Capablo JL, Domingo P, Andreu AL, Montoya J, Giralt M, Villarroya F. Guallar JP, et al. Among authors: gamez j. Mol Genet Metab. 2006 Nov;89(3):283-5. doi: 10.1016/j.ymgme.2006.03.001. Epub 2006 Apr 17. Mol Genet Metab. 2006. PMID: 16603396

3

Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene.

Vives-Bauza C, Gamez J, Roig M, Briones P, Cervera C, Solano A, Montoya J, Andreu AL. Vives-Bauza C, et al. Among authors: gamez j. Ann Med. 2001 Oct;33(7):493-6. doi: 10.3109/07853890109002099. Ann Med. 2001. PMID: 11680798 Free article.

4

Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA.

Solano A, Gámez J, Carod FJ, Pineda M, Playán A, López-Gallardo E, Andreu AL, Montoya J. Solano A, et al. Among authors: gamez j. J Med Genet. 2003 Jul;40(7):e86. doi: 10.1136/jmg.40.7.e86. J Med Genet. 2003. PMID: 12843335 Free PMC article. No abstract available.

5

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction.

Tanji K, Gamez J, Cervera C, Mearin F, Ortega A, de la Torre J, Montoya J, Andreu AL, DiMauro S, Bonilla E. Tanji K, et al. Among authors: gamez j. Acta Neuropathol. 2003 Jan;105(1):69-75. doi: 10.1007/s00401-002-0604-y. Epub 2002 Sep 7. Acta Neuropathol. 2003. PMID: 12471464

6

Uncoupling protein-1 mRNA expression in lipomas from patients bearing pathogenic mitochondrial DNA mutations.

Vilà MR, Gámez J, Solano A, Playán A, Schwartz S, Santorelli FM, Cervera C, Casali C, Montoya J, Villarroya F. Vilà MR, et al. Among authors: gamez j. Biochem Biophys Res Commun. 2000 Nov 30;278(3):800-2. doi: 10.1006/bbrc.2000.3828. Biochem Biophys Res Commun. 2000. PMID: 11095987

7

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.

Gámez J, Playán A, Andreu AL, Bruno C, Navarro C, Cervera C, Arbós MA, Schwartz S, Enriquez JA, Montoya J. Gámez J, et al. Neurology. 1998 Jul;51(1):258-60. doi: 10.1212/wnl.51.1.258. Neurology. 1998. PMID: 9674814

8

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.

Gamez J, Fernandez R, Bruno C, Andreu AL, Cervera C, Navarro C, Schwartz S, Dimauro S. Gamez J, et al. Muscle Nerve. 1999 Aug;22(8):1136-8. doi: 10.1002/(sici)1097-4598(199908)22:8<1136::aid-mus21>3.0.co;2-2. Muscle Nerve. 1999. PMID: 10417800

9

Reversion of mtDNA depletion in a patient with TK2 deficiency.

Vilà MR, Segovia-Silvestre T, Gámez J, Marina A, Naini AB, Meseguer A, Lombès A, Bonilla E, DiMauro S, Hirano M, Andreu AL. Vilà MR, et al. Among authors: gamez j. Neurology. 2003 Apr 8;60(7):1203-5. doi: 10.1212/01.wnl.0000055928.58122.47. Neurology. 2003. PMID: 12682338

10

A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.

Fernández R, Navarro C, Andreu AL, Bruno C, Shanske S, Gámez J, Teijeira S, Hernández I, Teijeiro A, Fernández JM, Musumeci O, DiMauro S. Fernández R, et al. Among authors: gamez j. Arch Neurol. 2000 Feb;57(2):217-9. doi: 10.1001/archneur.57.2.217. Arch Neurol. 2000. PMID: 10681080 Clinical Trial.

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